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注意:仅列出部分参考文献,下载原文获取全部文献信息。An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome Genetic Basis, Diagnosis, and Management
Debra E. Weese-Mayer et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2010)
Congenital central hypoventilation syndrome and the PHOX2B gene: A model of respiratory and autonomic dysregulation
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RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY (2010)
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CLINICAL AUTONOMIC RESEARCH (2009)
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INTERNATIONAL UROLOGY AND NEPHROLOGY (2009)
Congenital Central Hypoventilation Syndrome: PHOX2B genotype determines risk for sudden death
Jerome O. Gronli et al.
PEDIATRIC PULMONOLOGY (2008)
Congenital central hypoventilation syndrome -: PHOX2B mutations and phenotype
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AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2006)
Pupil findings in a consecutive series of 150 patients with generalised autonomic neuropathy
F. Bremner et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2006)
Pupil abnormalities in selected autonomic neuropathies
Fion D. Bremner et al.
JOURNAL OF NEURO-OPHTHALMOLOGY (2006)
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome
D Trochet et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Mechanisms and perspectives on differentiation of autonomic neurons
MJ Howard
DEVELOPMENTAL BIOLOGY (2005)
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
I Matera et al.
JOURNAL OF MEDICAL GENETICS (2004)
Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b
DE Weese-Mayer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
J Amiel et al.
NATURE GENETICS (2003)
Sympathetic and parasympathetic pupillary dysfunction in familial dysautonomia
M Dütsch et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2002)